Linked Data
ClinVar Variation Id:
2780528
ClinVar RCV Id:
RCV003609366
MyVariant Identifiers:
chr1:g.24124685G>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.23798195G>C , CM000663.2:g.23798195G>C | GRCh38 |
| NC_000001.10:g.24124685G>C , CM000663.1:g.24124685G>C | GRCh37 |
| NC_000001.9:g.23997272G>C | NCBI36 |
| NG_007068.1:g.7610C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000617979.5:c.273C>G MANE Select | ENSP00000483375.1:p.Leu91= | |
| ENST00000374497.7:c.273C>G | ENSP00000363621.3:p.Leu91= | |
| ENST00000418277.5:c.81C>G | ENSP00000414719.1:p.Leu27= | |
| ENST00000425913.5:c.273C>G | ENSP00000393359.1:p.Leu91= | |
| ENST00000429356.5:c.81C>G | ENSP00000398585.1:p.Leu27= | |
| ENST00000445705.1:c.273C>G | ENSP00000398257.1:p.Leu91= | |
| ENST00000459934.5:n.391C>G | ||
| ENST00000467493.5:n.733C>G | ||
| ENST00000470949.5:n.218C>G | ||
| ENST00000481736.5:n.677C>G | ||
| ENST00000486382.1:n.374C>G | ||
| ENST00000617979.4:c.273C>G | ENSP00000483375.1:p.Leu91= | |
| NM_000403.3:c.273C>G | NP_000394.2:p.Leu91= | |
| NM_001008216.1:c.273C>G | NP_001008217.1:p.Leu91= | |
| NM_001127621.1:c.273C>G | NP_001121093.1:p.Leu91= | |
| NM_001008216.2:c.273C>G MANE Select | NP_001008217.1:p.Leu91= | |
| NM_000403.4:c.273C>G | NP_000394.2:p.Leu91= | |
| NM_001127621.2:c.273C>G | NP_001121093.1:p.Leu91= |